lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	4153
Symbol	MBL2
Synonymous	COLEC1\|HSMBPC\|MBL\|MBL2D\|MBP\|MBP-C\|MBP1\|MBPD
Full name	mannose-binding lectin (protein C) 2, soluble
Gene description	collectin-1\|mannan-binding lectin\|mannose-binding lectin (protein C) 2, soluble (opsonic defect)\|mannose-binding lectin 2, soluble (opsonic defect)\|mannose-binding protein C
Cytoband	10q11.2
Gene type	protein-coding
Synonymous	MIM:154545; HGNC:HGNC:6922; Ensembl:ENSG00000165471; HPRD:01107; Vega:OTTHUMG00000150270

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.602A>T; p.N201I; 10:52768282-52768282	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.157G>T; p.D53Y; 10:52771479-52771479	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5C>T; p.S2F; 10:52771631-52771631	skin	malignant_melanoma	Substitution - Missense
c.518C>G; p.A173G; 10:52768366-52768366	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.430G>A; p.E144K; 10:52768454-52768454	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.357G>A; p.M119I; 10:52769263-52769263	oesophagus	carcinoma	Substitution - Missense
c.357G>A; p.M119I; 10:52769263-52769263	breast	carcinoma	Substitution - Missense
c.221G>A; p.G74E; 10:52770753-52770753	skin	malignant_melanoma	Substitution - Missense
c.244C>T; p.P82S; 10:52770730-52770730	skin	malignant_melanoma	Substitution - Missense
c.193G>T; p.G65W; 10:52770781-52770781	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.244C>T; p.P82S; 10:52770730-52770730	skin	malignant_melanoma	Substitution - Missense
c.498G>A; p.R166R; 10:52768386-52768386	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.380C>T; p.T127I; 10:52768504-52768504	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.119C>T; p.S40F; 10:52771517-52771517	skin	malignant_melanoma	Substitution - Missense
c.740C>T; p.P247L; 10:52768144-52768144	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.181G>A; p.E61K; 10:52771455-52771455	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.301C>T; p.P101S; 10:52770673-52770673	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.218_219insC; p.G74fs*31; 10:52770755-52770756	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.217C>A; p.P73T; 10:52770757-52770757	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.339A>G; p.K113K; 10:52769281-52769281	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.163A>G; p.T55A; 10:52771473-52771473	central_nervous_system; brain	glioma	Substitution - Missense
c.494C>T; p.P165L; 10:52768390-52768390	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.50C>T; p.A17V; 10:52771586-52771586	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.562G>A; p.D188N; 10:52768322-52768322	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.358G>A; p.A120T; 10:52769262-52769262	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.161G>A; p.G54D; 10:52771475-52771475	skin	malignant_melanoma	Substitution - Missense
c.623G>A; p.W208*; 10:52768261-52768261	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.161G>A; p.G54D; 10:52771475-52771475	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.687C>G; p.G229G; 10:52768197-52768197	prostate	carcinoma	Substitution - coding silent
c.152G>A; p.G51E; 10:52771484-52771484	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.724G>A; p.A242T; 10:52768160-52768160	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.139C>A; p.P47T; 10:52771497-52771497	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.302C>T; p.P101L; 10:52770672-52770672	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.188G>T; p.G63V; 10:52770786-52770786	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.556A>C; p.I186L; 10:52768328-52768328	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.70A>G; p.T24A; 10:52771566-52771566	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.319C>A; p.L107M; 10:52769301-52769301	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.540G>A; p.E180E; 10:52768344-52768344	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.361C>T; p.R121C; 10:52769259-52769259	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.204C>A; p.G68G; 10:52770770-52770770	skin	malignant_melanoma	Substitution - coding silent
c.5C>A; p.S2Y; 10:52771631-52771631	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.739C>A; p.P247T; 10:52768145-52768145	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.280A>C; p.K94Q; 10:52770694-52770694	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.423C>A; p.T141T; 10:52768461-52768461	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.228G>A; p.L76L; 10:52770746-52770746	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.296A>G; p.K99R; 10:52770678-52770678	skin	malignant_melanoma	Substitution - Missense
c.255T>C; p.S85S; 10:52770719-52770719	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.482C>A; p.S161Y; 10:52768402-52768402	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.536A>G; p.K179R; 10:52768348-52768348	haematopoietic_and_lymphoid_tissue; spleen	lymphoid_neoplasm; marginal_zone_lymphoma	Substitution - Missense
c.378C>G; p.L126L; 10:52768506-52768506	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.350C>T; p.T117I; 10:52769270-52769270	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.109G>T; p.A37S; 10:52771527-52771527	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.273G>T; p.K91N; 10:52770701-52770701	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.446A>C; p.E149A; 10:52768438-52768438	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.446A>C; p.E149A; 10:52768438-52768438	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.378C>A; p.L126L; 10:52768506-52768506	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.27C>A; p.L9L; 10:52771609-52771609	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.320_321insT; p.A108fs*37; 10:52769299-52769300	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.680A>C; p.K227T; 10:52768204-52768204	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.495C>A; p.P165P; 10:52768389-52768389	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.738C>T; p.F246F; 10:52768146-52768146	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.510G>T; p.E170D; 10:52768374-52768374	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.634G>A; p.E212K; 10:52768250-52768250	skin	malignant_melanoma	Substitution - Missense
c.634G>A; p.E212K; 10:52768250-52768250	skin	malignant_melanoma	Substitution - Missense
c.650G>A; p.G217D; 10:52768234-52768234	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.71C>A; p.T24N; 10:52771565-52771565	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.560C>A; p.T187N; 10:52768324-52768324	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.417C>T; p.F139F; 10:52768467-52768467	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.45_46insATGGT; p.A16fs*10; 10:52771590-52771591	skin; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.616A>C; p.T206P; 10:52768268-52768268	breast	carcinoma	Substitution - Missense
c.300T>A; p.S100R; 10:52770674-52770674	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.549C>T; p.F183F; 10:52768335-52768335	skin	malignant_melanoma	Substitution - coding silent
c.549C>T; p.F183F; 10:52768335-52768335	skin	malignant_melanoma	Substitution - coding silent
c.700G>A; p.V234I; 10:52768184-52768184	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.44T>C; p.V15A; 10:52771592-52771592	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.28C>T; p.L10F; 10:52771608-52771608	skin	malignant_melanoma	Substitution - Missense
c.30_32delTCT; p.L12delL; 10:52771604-52771606	liver	carcinoma; hepatocellular_carcinoma	Deletion - In frame
c.445G>A; p.E149K; 10:52768439-52768439	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.445G>A; p.E149K; 10:52768439-52768439	skin	malignant_melanoma	Substitution - Missense
c.674T>C; p.L225P; 10:52768210-52768210	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.627C>T; p.N209N; 10:52768257-52768257	prostate	carcinoma	Substitution - coding silent
c.61G>T; p.E21*; 10:52771575-52771575	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.293G>A; p.G98E; 10:52770681-52770681	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.293G>A; p.G98E; 10:52770681-52770681	skin	malignant_melanoma	Substitution - Missense
c.293G>A; p.G98E; 10:52770681-52770681	skin	malignant_melanoma	Substitution - Missense
c.132C>T; p.N44N; 10:52771504-52771504	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.251C>T; p.P84L; 10:52770723-52770723	skin	malignant_melanoma	Substitution - Missense
c.721C>T; p.L241L; 10:52768163-52768163	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.550C>T; p.L184L; 10:52768334-52768334	skin	malignant_melanoma	Substitution - coding silent
c.424A>G; p.N142D; 10:52768460-52768460	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.707G>A; p.C236Y; 10:52768177-52768177	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.415T>C; p.F139L; 10:52768469-52768469	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.303G>A; p.P101P; 10:52770671-52770671	skin	malignant_melanoma	Substitution - coding silent
c.686G>A; p.G229D; 10:52768198-52768198	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.304G>A; p.D102N; 10:52770670-52770670	skin	malignant_melanoma	Substitution - Missense
c.375G>A; p.W125*; 10:52768509-52768509	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.480C>T; p.A160A; 10:52768404-52768404	skin	malignant_melanoma	Substitution - coding silent
c.712A>C; p.T238P; 10:52768172-52768172	breast	carcinoma	Substitution - Missense
c.599G>A; p.G200E; 10:52768285-52768285	skin	malignant_melanoma	Substitution - Missense
c.599G>A; p.G200E; 10:52768285-52768285	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.188-2A>T; p.?; 10:52770788-52770788	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.144C>A; p.G48G; 10:52771492-52771492	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.727G>A; p.V243I; 10:52768157-52768157	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.144C>A; p.G48G; 10:52771492-52771492	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.239G>A; p.G80E; 10:52770735-52770735	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.515G>A; p.G172E; 10:52768369-52768369	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.32T>G; p.L11R; 10:52771604-52771604	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.27C>T; p.L9L; 10:52771609-52771609	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.464G>A; p.C155Y; 10:52768420-52768420	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.27C>T; p.L9L; 10:52771609-52771609	skin	malignant_melanoma	Substitution - coding silent
c.340G>T; p.A114S; 10:52769280-52769280	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation